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Genes:
ABRA, AC016885.1, ADAM18, ADAM28, ADAM32, ADAMDEC1, ADCK5, ADCY8, ADHFE1, ADRA1A, AGO2, AGPAT5, ANGPT2, ANK1, ANXA13, ARC, ARHGAP39, ARHGEF10, ARMC1, ASAH1, ASH2L, BAI1, BIN3, BLK, BMP1, BRF2, C8orf12, C8orf17, C8orf22, C8orf31, C8orf34, C8orf4, C8orf44, C8orf48, C8orf49, C8orf74, C8orf82, C8orf87, CA1, CA2, CA3, CA8, CCAR2, CDCA2, CDH17, CHRNA2, CLU, CNGB3, CNOT7, COL14A1, COL22A1, COMMD5, COPS5, COX6C, CPA6, CPNE3, CPQ, CPSF1, CRH, CSGALNACT1, CSMD1, CSMD3, CSPP1, CTHRC1, CYC1, CYHR1, CYP11B1, CYP11B2, CYP7B1, DCAF13, DDHD2, DEFA4, DEFA6, DEFB104A, DEFB107A, DEFB136, DENND3, DEPTOR, DLC1, DLGAP2, DNAJC5B, DOCK5, DOK2, DPYSL2, DSCC1, DUSP4, E2F5, EBF2, EEF1D, EFR3A, ENPP2, ENTPD4, EPHX2, EPPK1, ERI1, ERICH1, ESRP1, EXOSC4, EXT1, FAM135B, FAM160B2, FAM167A, FAM83A, FAM83H, FAM86B1, FAM86B2, FAM91A1, FBXO16, FDFT1, FER1L6, FGF20, FGL1, FOXH1, FP15737, FZD3, GDAP1, GEM, GFRA2, GGH, GLI4, GNRH1, GOLGA7, GPIHBP1, GPR124, GPR20, GRINA, GSDMC, HAS2, HGSNAT, HHLA1, HNF4G, HR, HRSP12, HTRA4, IDO2, INTS10, INTS8, KAT6A, KCNK9, KCNU1, KCTD9, KIAA0196, KIAA1456, KIAA1875, KIF13B, KIFC2, KLHL38, LAPTM4B, LONRF1, LOXL2, LPL, LRRC14, LRRC24, LRRCC1, LY6D, LY6H, LY6K, LY96, LYNX1, LYPD2, LZTS1, MAF1, MAFA, MAK16, MAL2, MAPK15, MATN2, MBOAT4, MCM4, MCMDC2, MCPH1, MFHAS1, MROH1, MROH5, MROH6, MSR1, MSRA, MTBP, MTMR7, MTMR9, MTSS1, MTUS1, MYC, MYOM2, NAPRT1, NAT2, NBN, NEFM, NEIL2, NIPAL2, NKAIN3, NOV, NPBWR1, NRBP2, NRG1, NSMAF, NUDCD1, NUDT18, NUGGC, OC90, ODF1, OPLAH, OPRK1, PABPC1, PAG1, PARP10, PBK, PCM1, PCMTD1, PDGFRL, PDLIM2, PDP1, PEBP4, PEX2, PHF20L1, PHYHIP, PINX1, PLEC, PMP2, POLR3D, POP1, POU5F1B, PRDM14, PREX2, PRKDC, PROSC, PRSS55, PSD3, PSKH2, PTK2, PTK2B, PXDNL, RAB11FIP1, RAD21, RAD54B, RB1CC1, RBM12B-AS1, RECQL4, REEP4, REXO1L1P, RGS22, RHOBTB2, RIMS2, RMDN1, RNF122, RNF139, RP1, RP11-422N16.3, RP11-481A20.11, RP1L1, RSPO2, SAMD12, SBSPON, SCARA5, SCRIB, SCRT1, SDC2, SGK223, SGK3, SH2D4A, SHARPIN, SLC10A5, SLC18A1, SLC20A2, SLC25A37, SLC26A7, SLC35G5, SLC39A4, SLC45A4, SLC7A13, SLCO5A1, SNTG1, SNX31, SORBS3, SOX17, SOX7, SPAG11A, SPAG11B, SPIDR, ST3GAL1, STAR, STAU2, TAF2, TBC1D31, TEX15, TG, TGS1, THEM6, TIGD5, TMEM249, TMEM55A, TMEM66, TMEM67, TMEM71, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TOP1MT, TRIB1, TRIM55, TRMT12, TRPA1, TRPS1, TSNARE1, TSPYL5, TTI2, UBE2W, USP17L2, VPS13B, VPS37A, WRN, WWP1, XKR6, XKR9, XPO7, ZC2HC1A, ZC3H3, ZFAT, ZFHX4, ZFP41, ZFPM2, ZHX2, ZNF16, ZNF250, ZNF395, ZNF517, ZNF572, ZNF596, ZNF623, ZNF696, ZNF7, ZNF704, ZNF705B, ZNF705D, ZNF705G, ZNF707,

Genes at Omim

ANK1, ARHGEF10, ASAH1, BLK, BMP1, CA2, CA8, CHRNA2, CNGB3, CPA6, CSPP1, CTHRC1, CYC1, CYP11B1, CYP11B2, CYP7B1, DDHD2, DLC1, EPHX2, ESRP1, EXT1, FAM83H, FDFT1, FGF20, GDAP1, GNRH1, GPIHBP1, HGSNAT, HR, KAT6A, KCNK9, LPL, LZTS1, MAFA, MCM4, MCPH1, MFHAS1, MSR1, MYC, NAT2, NBN, NRG1, OPLAH, PDGFRL, PDP1, PEX2, PMP2, POP1, PRKDC, RAD21, RAD54B, RB1CC1, RECQL4, RHOBTB2, RNF139, RP1, RP1L1, RSPO2, SAMD12, SLC20A2, SLC39A4, SOX17, STAR, TAF2, TEX15, TG, TMEM67, TNFRSF10B, TNFRSF11B, TRPA1, TRPS1, TTI2, VPS13B, VPS37A, ZFHX4, ZFPM2,
ANK1 Spherocytosis, type 1, 182900 (3)
ARHGEF10 ?Slowed nerve conduction velocity, AD, 608236 (3)
ASAH1 Farber lipogranulomatosis, 228000 (3)
Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
BLK Maturity-onset diabetes of the young, type 11, 613375 (3)
BMP1 Osteogenesis imperfecta, type XIII, 614856 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3)
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
CNGB3 Achromatopsia 3, 262300 (3)
Macular degeneration, juvenile, 248200 (3)
CPA6 Febrile seizures, familial, 11, 614418 (3)
Epilepsy, familial temporal lobe, 5, 614417 (3)
CSPP1 Joubert syndrome 21, 615636 (3)
CTHRC1 Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
CYC1 Mitochondrial complex III deficiency, nuclear type 6, 615453 (3)
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
Aldosteronism, glucocorticoid-remediable, 103900 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
{Low renin hypertension, susceptibility to} (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
CYP7B1 Bile acid synthesis defect, congenital, 3, 613812 (3)
Spastic paraplegia 5A, autosomal recessive, 270800 (3)
DDHD2 Spastic paraplegia 54, autosomal recessive, 615033 (3)
DLC1 Colorectal cancer, somatic, 114500 (3)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
ESRP1 ?Deafness, autosomal recessive 109, 618013 (3)
EXT1 Chondrosarcoma, 215300 (3)
Exostoses, multiple, type 1, 133700 (3)
FAM83H Amelogenesis imperfecta, type IIIA, 130900 (3)
FDFT1 Squalene synthase deficiency, 618156 (3)
FGF20 ?Renal hypodysplasia/aplasia 2, 615721 (3)
GDAP1 Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3)
Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
Charcot-Marie-Tooth disease, type 4A, 214400 (3)
GNRH1 ?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3)
GPIHBP1 Hyperlipoproteinemia, type 1D, 615947 (3)
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Retinitis pigmentosa 73, 616544 (3)
HR Alopecia universalis, 203655 (3)
Atrichia with papular lesions, 209500 (3)
Hypotrichosis 4, 146550 (3)
KAT6A Mental retardation, autosomal dominant 32, 616268 (3)
KCNK9 Birk-Barel mental retardation dysmorphism syndrome, 612292 (3)
LPL Combined hyperlipidemia, familial, 144250 (3)
Lipoprotein lipase deficiency, 238600 (3)
[High density lipoprotein cholesterol level QTL 11] (3)
LZTS1 Esophageal squamous cell carcinoma, somatic, 133239 (3)
MAFA Insulinomatosis and diabetes mellitus, 147630 (3)
MCM4 Immunodeficiency 54, 609981 (3)
MCPH1 Microcephaly 1, primary, autosomal recessive, 251200 (3)
MFHAS1 Malignant fibrous histiocytoma (2)
MSR1 Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
MYC Burkitt lymphoma, somatic, 113970 (3)
NAT2 [Acetylation, slow], 243400 (3)
NBN Aplastic anemia, 609135 (3)
Leukemia, acute lymphoblastic, 613065 (3)
Nijmegen breakage syndrome, 251260 (3)
NRG1 {?Schizophrenia, susceptibility to}, 603013 (1)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
PDGFRL Hepatocellular cancer, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
PDP1 Pyruvate dehydrogenase phosphatase deficiency, 608782 (3)
PEX2 Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3)
Peroxisome biogenesis disorder 5B, 614867 (3)
PMP2 Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 (3)
POP1 Anauxetic dysplasia 2, 617396 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RAD21 Cornelia de Lange syndrome 4, 614701 (3)
?Mungan syndrome, 611376 (3)
RAD54B Colon cancer, somatic, 114500 (3)
Lymphoma, non-Hodgkin, somatic, 605027 (3)
RB1CC1 Breast cancer, somatic, 114480 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RHOBTB2 Epileptic encephalopathy, early infantile, 64, 618004 (3)
RNF139 Renal cell carcinoma, 144700 (3)
RP1 Retinitis pigmentosa 1, 180100 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
RSPO2 ?Humerofemoral hypoplasia with radiotibial ray deficiency, 618022 (3)
Tetraamelia syndrome 2, 618021 (3)
SAMD12 Epilepsy, familial adult myoclonic, 1, 601068 (3)
SLC20A2 Basal ganglia calcification, idiopathic, 1, 213600 (3)
SLC39A4 Acrodermatitis enteropathica, 201100 (3)
SOX17 Vesicoureteral reflux 3, 613674 (3)
STAR Lipoid adrenal hyperplasia, 201710 (3)
TAF2 Mental retardation, autosomal recessive 40, 615599 (3)
TEX15 Spermatogenic failure 25, 617960 (3)
TG Thyroid dyshormonogenesis 3, 274700 (3)
{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
TMEM67 COACH syndrome, 216360 (3)
Joubert syndrome 6, 610688 (3)
Meckel syndrome 3, 607361 (3)
Nephronophthisis 11, 613550 (3)
?RHYNS syndrome, 602152 (3)
{Bardet-Biedl syndrome 14, modifier of}, 615991 (3)
TNFRSF10B Squamous cell carcinoma, head and neck, 275355 (3)
TNFRSF11B Paget disease of bone 5, juvenile-onset, 239000 (3)
TRPA1 ?Episodic pain syndrome, familial, 1, 615040 (3)
TRPS1 Trichorhinophalangeal syndrome, type I, 190350 (3)
Trichorhinophalangeal syndrome, type III, 190351 (3)
TTI2 Mental retardation, autosomal recessive 39, 615541 (3)
VPS13B Cohen syndrome, 216550 (3)
VPS37A Spastic paraplegia 53, autosomal recessive, 614898 (3)
ZFHX4 ?Ptosis, congenital, 178300 (2)
ZFPM2 Diaphragmatic hernia 3, 610187 (3)
46XY sex reversal 9, 616067 (3)
Tetralogy of Fallot, 187500 (3)

Genes at Clinical Genomics Database

ANK1, ARHGEF10, ASAH1, BLK, BMP1, CA2, CA8, CHRNA2, CNGB3, CPA6, CSPP1, CTHRC1, CYC1, CYP11B1, CYP11B2, CYP7B1, DDHD2, EXT1, FAM83H, FGF20, FOXH1, GDAP1, GNRH1, GPIHBP1, HGSNAT, HR, KAT6A, KCNK9, KIAA0196, LPL, MCM4, MCPH1, MSR1, NAT2, NBN, OPLAH, PDP1, PEX2, PLEC, PRKDC, RAD21, RB1CC1, RECQL4, RNF139, RP1, RP1L1, SLC20A2, SLC39A4, SOX17, STAR, TAF2, TG, TMEM67, TNFRSF10B, TNFRSF11B, TRPA1, TRPS1, TTI2, VPS13B, VPS37A, WRN, ZFPM2,
ANK1 Spherocytosis, hereditary 1
ARHGEF10 Slowed nerve conduction velocity, autosomal dominant (Hereditary motor and sensory neuropathy)
ASAH1 Farber lipogranulomatosis
Spinal muscular atrophy with progressive myoclonic epilepsy
BLK Maturity-onset diabetes of the young, type 11
BMP1 Osteogenesis imperfecta, type XIII
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CA8 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4
CNGB3 Achromatopsia 3
Macular degeneration, juvenile
CPA6 Febrile seizures, familial, 11
Epilepsy, familial temporal lobe, 5
CSPP1 Jeune Asphyxiating Thoracic Dystrophy
Joubert syndrome 21
CTHRC1 Barrett esophagus/Esophageal adenocarcinoma
CYC1 Mitochondrial complex III deficiency, nuclear type
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Glucocorticoid-remediable aldosteronism
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
CYP7B1 Bile acid synthesis defect, congenital, 3
DDHD2 Spastic paraplegia 54
EXT1 Exostoses, multiple, type 1
FAM83H Amelogenesis imperfecta, type 3
FGF20 Renal hypodysplasia/aplasia 2
FOXH1 Holoprosencephaly
Congenital heart malformations
GDAP1 Charcot-Marie-Tooth disease, recessive intermediate, A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
Charcot-Marie-Tooth disease, axonal, type 2K
Charcot-Marie-Tooth disease, type 4A
GNRH1 Hypogonadotropic hypogonadism 12 with or without anosmia
GPIHBP1 Hyperlipoproteinemia, type ID
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C)
Retinitis pigmentosa 73
HR Hypotrichosis 4
Atrichia with papular lesions
Alopecia universalis congenita
KAT6A Mental retardation, autosomal dominant 32
KCNK9 Birk-Barel mental retardation dysmorphism syndrome
KIAA0196 Spastic paraplegia 8
Ritscher-Schinzel syndrome 1 (3C syndrome)
LPL Lipoprotein lipase deficiency
Combined hyperlipidemia, familial
Hyperlipoproteinemia, type I
MCM4 Natural killer cell and glucocorticoid deficiency with DNA repair defect
MCPH1 Microcephaly, primary autosomal recessive, 1
MSR1 Barrett esophagus/esophageal adenocarcinoma
Prostate cancer
NAT2 Acetylation, NAT2-related
NBN Breast cancer, susceptibility to
Nijmegen breakage syndrome
OPLAH 5-oxoprolinase deficiency
PDP1 Pyruvate dehydrogenase phosphatase deficiency
PEX2 Peroxisome biogenesis disorder 5A
Peroxisome biogenesis disorder 5B
PLEC Muscular dystrophy, limb-girdle, type 2Q
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RAD21 Cornelia de Lange syndrome 4
RB1CC1 Schizophrenia
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
RNF139 Renal cell carcinoma, clear cell
RP1 Retinitis pigmentosa 1, autosomal dominant
Retinitis pigmentosa 1, autosomal recessive
RP1L1 Occult macular dystrophy
Retinitis pigmentosa, autosomal recessive
SLC20A2 Basal ganglia calcification, idiopathic, 1
SLC39A4 Acrodermatitis enteropathica
SOX17 Vesicoureteral reflux 3
STAR Lipoid adrenal hyperplasia
TAF2 Mental retardation, autosomal recessive 40
TG Thyroid dyshormonogenesis 3
TMEM67 Nephronophthisis 11
Meckel syndrome 3
Joubert syndrome 6
COACH syndrome
TNFRSF10B Squamous cell carcinoma, head and neck
TNFRSF11B Paget disease of bone 5, juvenile
TRPA1 Episodic pain syndrome, familial
TRPS1 Trichorhinophalangeal syndrome, type I
Trichorhinophalangeal syndrome, type III
TTI2 Mental retardation, autosomal recessive 39
VPS13B Cohen syndrome
VPS37A Spastic paraplegia 53, autosomal recessive
WRN Werner syndrome
ZFPM2 46,XY sex reversal 9

Genes at HGMD

Summary

Number of Variants: 2318
Number of Genes: 340

Export to: CSV

ABRA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs11996457
dbSNP Clinvar
107782335 1737.0 G A PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.28055 0.28060 0.29940 None None None None None None ABRA|0.085117815|54.14%
View fpd-alg-mad-1230-3 8 rs11996466
dbSNP Clinvar
107782395 2831.0 G A PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.44090 0.44090 0.40969 None None None None None None ABRA|0.085117815|54.14%
View fpd-alg-mad-1230-3 8 rs13259080
dbSNP Clinvar
107782065 5464.0 A G PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.18570 0.18570 0.12679 None None None None None None ABRA|0.085117815|54.14%

AC016885.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs278562
dbSNP Clinvar
94242350 3081.0 A G PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.54094 0.54090 0.10 0.40 None None None None None None None

ADAM18

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs12708194
dbSNP Clinvar
39496029 18381.0 T C PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.58846 0.58850 0.30568 None None None None None None ADAM18|0.01116597|79.89%

ADAM28

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs7009516
dbSNP Clinvar
24208847 7213.0 G A PASS 0/1 76 None None None 0.56370 0.56370 0.46356 None None None None None None ADAM28|0.028862647|69.97%
View fpd-alg-mad-1230-3 8 rs7814768
dbSNP Clinvar
24211331 42435.0 G A PASS 1/1 239 NON_SYNONYMOUS_CODING MODERATE None 0.96705 0.96710 0.02169 1.00 0.00 None None None None None None ADAM28|0.028862647|69.97%

ADAM32

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs59118660
dbSNP Clinvar
38965271 7748.0 C T PASS 0/1 59 START_GAINED LOW None 0.43790 0.43790 0.33230 None None None None None None ADAM32|0.008880265|81.76%
View fpd-alg-mad-1230-3 8 rs7845771
dbSNP Clinvar
39080632 33473.0 C G PASS 1/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.95827 0.95830 0.03848 1.00 0.01 None None None None None None ADAM32|0.008880265|81.76%

ADAMDEC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs3765124
dbSNP Clinvar
24261526 9927.0 A G PASS 0/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.29493 0.29490 0.34453 0.09 0.46 None None None None None None ADAMDEC1|0.01425096|77.67%
View fpd-alg-mad-1230-3 8 rs2291577
dbSNP Clinvar
24256470 4320.0 C T PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.29293 0.29290 0.34269 None None None None None None ADAMDEC1|0.01425096|77.67%

ADCK5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs6599528
dbSNP Clinvar
145603114 4887.0 A C PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.63239 0.63240 0.45824 0.80 0.00 None None None None None None ADCK5|0.009712798|81.05%

ADCY8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs12547243
dbSNP Clinvar
131921956 17120.0 A G PASS 1/1 102 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.54473 0.54470 0.42642 None None None None None None ADCY8|0.569570608|13.01%
View fpd-alg-mad-1230-3 8 rs12545028
dbSNP Clinvar
131922027 2081.0 T G PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.10483 0.10480 0.15393 None None None None None None ADCY8|0.569570608|13.01%

ADHFE1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs1060242
dbSNP Clinvar
67380528 13356.0 T C PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.57947 0.57950 0.44349 1.00 0.00 None None None None None None ADHFE1|0.859920053|4.46%,C8orf46|0.07752265|55.76%

ADRA1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs1048101
dbSNP Clinvar
26628028 9805.0 A G PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.64816 0.64820 0.45494 0.40 0.00 None None None None None None ADRA1A|0.171893562|40.07%
View fpd-alg-mad-1230-3 8 rs6989854
dbSNP Clinvar
26636925 20760.0 T C PASS 1/1 80 None None None 0.64377 0.64380 None None None None None None ADRA1A|0.171893562|40.07%
View fpd-alg-mad-1230-3 8 rs61760540
dbSNP Clinvar
26636918 1056.0 T C PASS 0/1 88 None None None 0.00679 0.00679 0.21 0.00 None None None None None None ADRA1A|0.171893562|40.07%
View fpd-alg-mad-1230-3 8 rs60593443
dbSNP Clinvar
26636906 6321.0 T A PASS 0/1 112 None None None 0.24361 0.24360 0.05 0.17 None None None None None None ADRA1A|0.171893562|40.07%

AGO2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs2293939
dbSNP Clinvar
141551407 3057.0 G A PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.22744 0.22740 0.20906 None None None None None None AGO2|0.736134544|7.47%
View fpd-alg-mad-1230-3 8 rs2292781
dbSNP Clinvar
141559358 3031.0 G A PASS 0/1 24 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.47244 0.47240 0.39734 None None None None None None AGO2|0.736134544|7.47%
View fpd-alg-mad-1230-3 8 rs2292778
dbSNP Clinvar
141568622 6732.0 G A PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.65555 0.65560 0.37175 None None None None None None AGO2|0.736134544|7.47%

AGPAT5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs115348738
dbSNP Clinvar
6588323 736.0 A G PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.01138 0.01138 0.01522 None None None None None None AGPAT5|0.083981086|54.43%
View fpd-alg-mad-1230-3 8 rs139524305
dbSNP Clinvar
6590160 1986.0 G A PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00100 0.51 0.04 None None None None None None AGPAT5|0.083981086|54.43%

ANGPT2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs3020221
dbSNP Clinvar
6378763 7625.0 C T PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.30970 0.30970 0.36529 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%
View fpd-alg-mad-1230-3 8 rs6559167
dbSNP Clinvar
6389889 28015.0 C G,A PASS 2/2 147 SYNONYMOUS_CODING LOW None 0.28974 0.28970 0.42734 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%
View fpd-alg-mad-1230-3 8 rs1961222
dbSNP Clinvar
6377433 10188.0 C T PASS 0/1 127 SYNONYMOUS_CODING LOW None 0.14976 0.14980 0.24381 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%

ANK1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs2304871
dbSNP Clinvar
41585438 6689.0 G A PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.22844 0.22840 0.24965 None None None None None None ANK1|0.956309863|2.07%
View fpd-alg-mad-1230-3 8 rs7816734
dbSNP Clinvar
41547748 1652.0 G A PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.18730 0.18730 0.19260 None None None None None None ANK1|0.956309863|2.07%

ANXA13

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs2294013
dbSNP Clinvar
124710729 7562.0 C T PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.23403 0.23400 0.29479 0.12 0.02 None None None None None None ANXA13|0.222416197|34.14%

ARC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs2234911
dbSNP Clinvar
143695144 441.0 G A PASS 1/1 6 SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.47025 None None None None None None ARC|0.130590354|45.8%

ARHGAP39

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs873884
dbSNP Clinvar
145756170 3394.0 G A PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.38698 0.38700 0.49083 None None None None None None ARHGAP39|0.083072421|54.56%

ARHGEF10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs7003969
dbSNP Clinvar
1817367 6990.0 G A PASS 0/1 167 SYNONYMOUS_CODING LOW None 0.23582 0.23580 0.19545 None None None None None None ARHGEF10|0.010635325|80.42%
View fpd-alg-mad-1230-3 8 rs3735876
dbSNP Clinvar
1905132 1977.0 G A PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.36801 0.36800 0.34561 None None None None None None ARHGEF10|0.010635325|80.42%
View fpd-alg-mad-1230-3 8 rs2272613
dbSNP Clinvar
1873540 255.0 C T PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.10643 0.10640 0.04529 None None None None None None ARHGEF10|0.010635325|80.42%

ARMC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs16932266
dbSNP Clinvar
66517549 2883.0 T C PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.02177 0.02177 0.01776 None None None None None None ARMC1|0.549639557|13.74%

ASAH1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs1049874
dbSNP Clinvar
17927327 6429.0 T C PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.42053 0.42050 0.42163 0.93 0.00 None None None None None None ASAH1|0.03988949|65.81%
View fpd-alg-mad-1230-3 8 rs10103355
dbSNP Clinvar
17918934 51777.0 A G PASS 1/1 241 NON_SYNONYMOUS_CODING MODERATE None 0.85024 0.85020 0.13340 0.92 0.00 None None None None None None ASAH1|0.03988949|65.81%
View fpd-alg-mad-1230-3 8 rs1071645
dbSNP Clinvar
17928811 7297.0 C T PASS 1/1 92 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.42053 0.42050 0.42427 0.19 0.00 None None None None None None ASAH1|0.03988949|65.81%
View fpd-alg-mad-1230-3 8 rs3753115
dbSNP Clinvar
17930772 3034.0 C T PASS 1/1 51 None None None 0.41354 0.41350 0.42394 0.33 0.00 None None None None None None ASAH1|0.03988949|65.81%

ASH2L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs2843740
dbSNP Clinvar
37985897 23076.0 A G PASS 1/1 103 SYNONYMOUS_CODING LOW None 0.84804 0.84800 0.08396 None None None None None None ASH2L|0.428566452|19.21%

BAI1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs200667079
dbSNP Clinvar
143618382 845.0 G C PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.77 None None None None None None ADGRB1|0.079978463|55.17%
View fpd-alg-mad-1230-3 8 rs7460600
dbSNP Clinvar
143603418 14658.0 G C PASS 1/1 69 SYNONYMOUS_CODING LOW None 0.90375 0.90380 0.09007 None None None None None None ADGRB1|0.079978463|55.17%

BIN3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs1871900
dbSNP Clinvar
22481449 9753.0 A G PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.49720 0.49720 0.45654 None None None None None None BIN3|0.312765796|26.64%

BLK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs3816668
dbSNP Clinvar
11406593 6411.0 T C PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.41693 0.41690 0.49031 None None None None None None BLK|0.095762795|51.98%

BMP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs4076619
dbSNP Clinvar
22067070 2670.0 C T PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.15395 0.15400 0.13455 None None None None None None BMP1|0.631090407|10.73%
View fpd-alg-mad-1230-3 8 rs2229777
dbSNP Clinvar
22054197 2285.0 T C PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.12999 0.13000 0.10772 None None None None None None BMP1|0.631090407|10.73%
View fpd-alg-mad-1230-3 8 rs80019749
dbSNP Clinvar
22064904 591.0 T C PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.04213 0.04213 0.00953 0.28 0.02 None None None None None None BMP1|0.631090407|10.73%

BRF2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs144553072
dbSNP Clinvar
37702445 922.0 G A PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00108 0.00 0.51 None None None None None None BRF2|0.121750334|47.19%

C8orf12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs78934573
dbSNP Clinvar
11292608 384.0 A G PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.01737 0.01737 0.00 0.50 None None None None None None FAM167A-AS1|0.000825171|96.52%,FAM167A|0.032787665|68.25%

C8orf17

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs2233233
dbSNP Clinvar
140944585 279.0 C T PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.00699 0.00699 0.01577 0.00 0.90 None None None None None None TRAPPC9|0.08928407|53.39%,C8orf17|0.00031734|99.36%

C8orf22

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs6980664
dbSNP Clinvar
49985395 1171.0 A C PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.03594 0.03594 0.03028 None None None None None None C8orf22|0.009289857|81.46%

C8orf31

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs11136300
dbSNP Clinvar
144124609 9396.0 T C PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.70527 0.70530 0.33292 0.06 0.01 None None None None None None C8orf31|0.000375865|99.11%
View fpd-alg-mad-1230-3 8 rs73717943
dbSNP Clinvar
144126087 357.0 C A PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.02296 0.02296 0.02499 0.00 0.00 None None None None None None C8orf31|0.000375865|99.11%

C8orf34

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs2289831
dbSNP Clinvar
69434195 5306.0 T C PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.20727 0.20730 0.21283 None None None None None None C8orf34|0.356828577|23.69%

C8orf4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs6474226
dbSNP Clinvar
40011079 20521.0 G A PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.98662 0.98660 0.01107 0.53 0.00 None None None None None None C8orf4|0.263856916|30.39%

C8orf44

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs1057463
dbSNP Clinvar
67592152 6763.0 T C PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.21845 0.21850 0.22597 0.00 0.52 None None None None None None C8orf44-SGK3|0.813852292|5.49%,C8orf44|0.001520789|92.66%

C8orf48

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs11203497
dbSNP Clinvar
13425353 16203.0 T A PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.98502 0.98500 0.01533 1.00 0.00 None None None None None None C8orf48|0.002033946|90.89%
View fpd-alg-mad-1230-3 8 rs13273355
dbSNP Clinvar
13424583 21382.0 C T PASS 1/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.81210 0.81210 0.20894 1.00 0.00 None None None None None None C8orf48|0.002033946|90.89%

C8orf49

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs809204
dbSNP Clinvar
11619163 6903.0 A G PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.25160 0.25160 0.00 0.35 None None None None None None C8orf49|0.001687308|91.93%
View fpd-alg-mad-1230-3 8 rs809203
dbSNP Clinvar
11619504 8289.0 T A PASS 0/1 82 STOP_GAINED HIGH None 0.25140 0.25140 None None None None None None C8orf49|0.001687308|91.93%
View fpd-alg-mad-1230-3 8 rs811966
dbSNP Clinvar
11619334 23571.0 C T PASS 1/1 81 SYNONYMOUS_CODING LOW None 0.69828 0.69830 None None None None None None C8orf49|0.001687308|91.93%
View fpd-alg-mad-1230-3 8 rs804285
dbSNP Clinvar
11618998 133.0 G C PASS 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.97344 0.97340 1.00 0.00 None None None None None None C8orf49|0.001687308|91.93%
View fpd-alg-mad-1230-3 8 rs2740431
dbSNP Clinvar
11619261 26118.0 T A PASS 1/1 103 SYNONYMOUS_CODING LOW None 0.94329 0.94330 None None None None None None C8orf49|0.001687308|91.93%

C8orf74

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs11250058
dbSNP Clinvar
10530218 57049.0 C T PASS 1/1 173 NON_SYNONYMOUS_CODING MODERATE None 0.99241 0.99240 0.00008 0.33 0.00 None None None None None None RP1L1|0.000840698|96.44%,C8orf74|0.022006749|73.16%

C8orf82

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs115228909
dbSNP Clinvar
145754187 155.0 C G PASS 0/1 9 None None None 0.15575 0.15580 0.12997 None None None None None None C8orf82|0.009303358|81.44%
View fpd-alg-mad-1230-3 8 rs75220950
dbSNP Clinvar
145754272 252.0 G A PASS 0/1 16 None None None 0.06550 0.06550 0.05942 0.07 0.00 None None None None None None C8orf82|0.009303358|81.44%

C8orf87

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs13267247
dbSNP Clinvar
94146656 991.0 G T PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.23163 0.23160 0.00 0.77 None None None None None None C8orf87|0.001906946|91.22%

CA1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs77342877
dbSNP Clinvar
86250518 1087.0 G A PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.01797 0.01797 0.01584 None None None None None None CA1|0.04864836|63.06%

CA2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs703
dbSNP Clinvar
86389403 28749.0 T C PASS 0/1 122 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

CA3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs20571
dbSNP Clinvar
86351997 18737.0 G A PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.43950 0.43950 0.48578 1.00 0.00 None None None None None None CA3|0.309141355|26.9%

CA8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs7464181
dbSNP Clinvar
61178574 41032.0 T C PASS 0/1 221 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50100 0.50100 0.47178 None None None None None None CA8|0.652125387|10.02%

CCAR2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs17855313
dbSNP Clinvar
22476389 251.0 T C PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.00519 0.00519 0.00861 None None None None None None CCAR2|0.363674682|23.18%
View fpd-alg-mad-1230-3 8 rs3736147
dbSNP Clinvar
22471824 3545.0 G A PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.26937 0.26940 0.26273 None None None None None None CCAR2|0.363674682|23.18%
View fpd-alg-mad-1230-3 8 rs7843828
dbSNP Clinvar
22463623 7628.0 C T PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.30351 0.30350 0.31170 None None None None None None CCAR2|0.363674682|23.18%

CDCA2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs10108752
dbSNP Clinvar
25323777 49249.0 T C PASS 1/1 180 SYNONYMOUS_CODING LOW None 0.95547 0.95550 0.04598 None None None None None None CDCA2|0.009449627|81.34%
View fpd-alg-mad-1230-3 8 rs6990278
dbSNP Clinvar
25364960 5533.0 A G PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.19249 0.19250 0.19207 None None None None None None CDCA2|0.009449627|81.34%
View fpd-alg-mad-1230-3 8 rs3829009
dbSNP Clinvar
25364834 7676.0 A T PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.19249 0.19250 0.19168 0.20 0.01 None None None None None None CDCA2|0.009449627|81.34%

CDH17

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs3214050
dbSNP Clinvar
95186382 8245.0 G A PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.34585 0.34580 0.39013 None None None None None None CDH17|0.034427264|67.65%
View fpd-alg-mad-1230-3 8 rs2513797
dbSNP Clinvar
95143138 4972.0 A G PASS 0/1 92 SYNONYMOUS_CODING LOW None 0.08367 0.08367 0.11848 None None None None None None CDH17|0.034427264|67.65%
View fpd-alg-mad-1230-3 8 rs1051624
dbSNP Clinvar
95143172 7356.0 T G PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.44269 0.44270 0.47363 0.22 0.00 None None None None None None CDH17|0.034427264|67.65%
View fpd-alg-mad-1230-3 8 rs1051623
dbSNP Clinvar
95143186 27042.0 C G PASS 1/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.78395 0.78390 0.16639 0.34 0.00 None None None None None None CDH17|0.034427264|67.65%
View fpd-alg-mad-1230-3 8 rs2251734
dbSNP Clinvar
95158259 8439.0 G A PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.31210 0.31210 0.32731 None None None None None None CDH17|0.034427264|67.65%
View fpd-alg-mad-1230-3 8 rs2243518
dbSNP Clinvar
95188850 47739.0 T C PASS 1/1 188 NON_SYNONYMOUS_CODING MODERATE None 0.80232 0.80230 0.16861 0.52 0.00 None None None None None None CDH17|0.034427264|67.65%
View fpd-alg-mad-1230-3 8 rs1131830
dbSNP Clinvar
95158382 4038.0 C T PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.43151 0.43150 0.45541 None None None None None None CDH17|0.034427264|67.65%

CHRNA2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs891398
dbSNP Clinvar
27324822 9085.0 T C PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.61022 0.61020 0.41988 1.00 0.00 None None None None None None CHRNA2|0.020223368|74.06%

CLU

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs7982
dbSNP Clinvar
27462481 9379.0 A G PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.66454 0.66450 0.40212 None None None None None None CLU|0.219123407|34.47%

CNGB3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs3735970
dbSNP Clinvar
87588248 3691.0 T C PASS 0/1 128 SYNONYMOUS_CODING LOW None 0.08227 0.08227 0.07843 None None None None None None CNGB3|0.068013081|57.91%
View fpd-alg-mad-1230-3 8 rs4961206
dbSNP Clinvar
87666251 45839.0 T G PASS 1/1 166 NON_SYNONYMOUS_CODING MODERATE None 0.67971 0.67970 0.35941 0.30 0.01 None None None None None None CNGB3|0.068013081|57.91%
View fpd-alg-mad-1230-3 8 rs6471482
dbSNP Clinvar
87679303 33230.0 A C PASS 1/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.95747 0.95750 0.12141 1.00 0.00 None None None None None None CNGB3|0.068013081|57.91%
View fpd-alg-mad-1230-3 8 rs3735972
dbSNP Clinvar
87588198 4850.0 T C PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.08227 0.08227 0.08096 0.21 0.04 None None None None None None CNGB3|0.068013081|57.91%

CNOT7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs2959606
dbSNP Clinvar
17092164 24467.0 G T PASS 1/1 69 None None None 0.96006 0.96010 None None None None None None CNOT7|0.468115018|17.27%

COL14A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs4870723
dbSNP Clinvar
121228679 19963.0 A C PASS 0/1 167 NON_SYNONYMOUS_CODING MODERATE None 0.59006 0.59010 0.48401 0.01 0.30 None None None None None None COL14A1|0.765229358|6.75%
View fpd-alg-mad-1230-3 8 rs116570378
dbSNP Clinvar
121282371 1335.0 C T PASS 0/1 138 SYNONYMOUS_CODING LOW None 0.01018 0.01018 0.01869 None None None None None None COL14A1|0.765229358|6.75%
View fpd-alg-mad-1230-3 8 rs4463470
dbSNP Clinvar
121383048 29157.0 T C PASS 1/1 106 None None None 0.82668 0.82670 0.01 0.00 None None None None None None COL14A1|0.765229358|6.75%
View fpd-alg-mad-1230-3 8 rs2305600
dbSNP Clinvar
121215991 8711.0 T C PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.63838 0.63840 0.43165 None None None None None None COL14A1|0.765229358|6.75%
View fpd-alg-mad-1230-3 8 rs2305598
dbSNP Clinvar
121210069 27255.0 T C PASS 1/1 188 SYNONYMOUS_CODING LOW None 0.63439 0.63440 0.42465 None None None None None None COL14A1|0.765229358|6.75%

COL22A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 8 rs2292927
dbSNP Clinvar
139838912 14258.0 T C PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.83147 0.83150 0.17069 1.00 0.00 None None None None None None COL22A1|0.06710202|58.12%
View fpd-alg-mad-1230-3 8 rs10091563
dbSNP Clinvar
139647262 14855.0 A G PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.26534 None None None None None None COL22A1|0.06710202|58.12%
View fpd-alg-mad-1230-3 8 rs9644500
dbSNP Clinvar
139697478 21325.0 T C PASS 1/1 121 SYNONYMOUS_CODING LOW None 0.57867 0.57870 0.45648 None None None None None None COL22A1|0.06710202|58.12%